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Neuron (Cambridge, Mass.), 2020-06, Vol.106 (5), p.759-768.e7
2020
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Canadian journal of kidney health and disease, 2021, Vol.8, p.20543581211055001-20543581211055001
2021
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Human reproduction (Oxford), 2007-04, Vol.22 (4), p.1114-1122
2007
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Nature genetics, 2012-08, Vol.44 (8), p.934-940
- RIVIERE, Jean-Baptiste
- MIRZAA, Ghayda M
- WORTHYLAKE, Thea
- SULLIVAN, Christopher T
- WARD, Thomas R
- BUTLER, Hailly E
- KRAMER, Nancy A
- ALBRECHT, Beate
- ARMOUR, Christine M
- ARMSTRONG, Linlea
- CALUSERIU, Oana
- CYTRYNBAUM, Cheryl
- O'ROAK, Brian J
- DROLET, Beth A
- INNES, Amicheil
- LAUZON, Juliel
- LIN, Angela E
- MANCINI, Grazia M. S
- MESCHINO, Wendy S
- REGGIN, James D
- SAGGAR, Anand K
- LERMAN-SAGIE, Tally
- UYANIK, Gokhan
- BEDDAOUI, Margaret
- WEKSBERG, Rosanna
- ZIRN, Birgit
- BEAULIEU, Chandree L
- MAJEWSKI, Jacek
- BULMAN, Dennis E
- O'DRISCOLL, Mark
- SHENDURE, Jay
- GRAHAM, John M
- BOYCOTT, Kym M
- DOBYNS, William B
- ALCANTARA, Diana
- CONWAY, Robert L
- ST-ONGE, Judith
- SCHWARTZENTRUBER, Jeremy A
- GRIPP, Karen W
- NIKKEL, Sarah M
2012
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American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2981-3008
- Conway, Robert L.
- Pressman, Barry D.
- Dobyns, William B.
- Danielpour, Moise
- Lee, John
- Sanchez-Lara, Pedro A.
- Butler, Merlin G.
- Zackai, Elaine
- Campbell, Lindsey
- Saitta, Sulagna C.
- Clericuzio, Carol L.
- Milunsky, Jeff M.
- Hoyme, H. Eugene
- Shieh, Joseph
- Moeschler, John B.
- Crandall, Barbara
- Lauzon, Julie L.
- Viskochil, David H.
- Harding, Brian
- Graham Jr, John M.
2007
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Prenatal diagnosis, 2009-07, Vol.29 (7), p.682-690
2009
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Genetics in medicine, 2022-08, Vol.24 (8), p.1761-1773
2022
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Journal of obstetrics and gynaecology Canada, 2018-11, Vol.40 (11), p.1417-1423
2018
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Human mutation, 2013-01, Vol.34 (1), p.66-69
2013
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Pediatric and developmental pathology, 2014-05, Vol.17 (3), p.209-216
2014
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American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.119-133
- Dyment, David A.
- O'Donnell‐Luria, Anne
- Agrawal, Pankaj B.
- Coban Akdemir, Zeynep
- Aleck, Kyrieckos A.
- Antaki, Danny
- Al Sharhan, Hind
- Au, Ping‐Yee B.
- Aydin, Hatip
- Beggs, Alan H.
- Bilguvar, Kaya
- Boerwinkle, Eric
- Brand, Harrison
- Brownstein, Catherine A.
- Buyske, Steve
- Chodirker, Bernard
- Choi, Jungmin
- Chudley, Albert E.
- Clericuzio, Carol L.
- Cox, Gerald F.
- Curry, Cynthia
- Boer, Elke
- Vries, Bert B. A.
- Dunn, Kathryn
- Dutmer, Cullen M.
- England, Eleina M.
- Fahrner, Jill A.
- Geckinli, Bilgen B.
- Genetti, Casie A.
- Gezdirici, Alper
- Gibson, William T.
- Gleeson, Joseph G.
- Greenberg, Cheryl R.
- Hall, April
- Hamosh, Ada
- Hartley, Taila
- Jhangiani, Shalini N.
- Karaca, Ender
- Kernohan, Kristin
- Lauzon, Julie L.
- Lewis, M. E. Suzanne
- Lowry, R. Brian
- López‐Giráldez, Francesc
- Matise, Tara C.
- McEvoy‐Venneri, Jennifer
- McInnes, Brenda
- Mhanni, Aziz
- Garcia Minaur, Sixto
- Moilanen, Jukka
- Nguyen, An
- Nowaczyk, Malgorzata J. M.
- Posey, Jennifer E.
- Õunap, Katrin
- Pehlivan, Davut
- Pajusalu, Sander
- Penney, Lynette S.
- Poterba, Timothy
- Prontera, Paolo
- Doriqui, Maria Juliana Rodovalho
- Sawyer, Sarah L.
- Sobreira, Nara
- Stanley, Valentina
- Torun, Deniz
- Wargowski, David
- Witmer, P. Dane
- Wong, Isaac
- Xing, Jinchuan
- Zaki, Maha S.
- Zhang, Yeting
- Boycott, Kym M.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Blue, Elizabeth E.
- Innes, A. Micheil
2021
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Journal of neurosurgery. Pediatrics, 2009-10, Vol.4 (4), p.397
2009
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Journal of medical genetics, 2015-07, Vol.52 (7), p.431-437
- Boycott, Kym
- Hartley, Taila
- Adam, Shelin
- Bernier, Francois
- Chong, Karen
- Fernandez, Bridget A
- Friedman, Jan M
- Geraghty, Michael T
- Hume, Stacey
- Knoppers, Bartha M
- Laberge, Anne-Marie
- Majewski, Jacek
- Mendoza-Londono, Roberto
- Meyn, M Stephen
- Michaud, Jacques L
- Nelson, Tanya N
- Richer, Julie
- Sadikovic, Bekim
- Skidmore, David L
- Stockley, Tracy
- Taylor, Sherry
- van Karnebeek, Clara
- Zawati, Ma'n H
- Lauzon, Julie
- Armour, Christine M
2015
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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
- Bernier, Francois P.
- Caluseriu, Oana
- Ng, Sarah
- Schwartzentruber, Jeremy
- Buckingham, Kati J.
- Innes, A. Micheil
- Jabs, Ethylin Wang
- Innis, Jeffrey W.
- Schuette, Jane L.
- Gorski, Jerome L.
- Byers, Peter H.
- Andelfinger, Gregor
- Siu, Victoria
- Lauzon, Julie
- Fernandez, Bridget A.
- McMillin, Margaret
- Scott, Richard H.
- Racher, Hilary
- Majewski, Jacek
- Nickerson, Deborah A.
- Shendure, Jay
- Bamshad, Michael J.
- Parboosingh, Jillian S.
2012
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Cancer, 2022-10, Vol.128 (20), p.3610-3619
2022
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JAMA internal medicine, 2013-11, Vol.173 (20), p.1863
2013
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Cancer, 2022-10, Vol.128 (20), p.3610-3619
2022
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Canadian Medical Association journal (CMAJ), 2014-04, Vol.186 (7), p.497
2014
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Heart (British Cardiac Society), 2017-06, Vol.103 (11), p.863
2017
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Human mutation, 2016-02, Vol.37 (2), p.148-154
- Huang, Lijia
- Vanstone, Megan R.
- Hartley, Taila
- Osmond, Matthew
- Barrowman, Nick
- Allanson, Judith
- Baker, Laura
- Dabir, Tabib A.
- Dipple, Katrina M.
- Dobyns, William B.
- Estrella, Jane
- Faghfoury, Hanna
- Favaro, Francine P.
- Goel, Himanshu
- Gregersen, Pernille A.
- Gripp, Karen W.
- Grix, Art
- Guion-Almeida, Maria-Leine
- Harr, Margaret H.
- Hudson, Cindy
- Hunter, Alasdair G.W.
- Johnson, John
- Joss, Shelagh K.
- Kimball, Amy
- Kini, Usha
- Kline, Antonie D.
- Lauzon, Julie
- Lildballe, Dorte L.
- López-González, Vanesa
- Martinezmoles, Johanna
- Meldrum, Cliff
- Mirzaa, Ghayda M.
- Morel, Chantal F.
- Morton, Jenny E.V.
- Pyle, Louise C.
- Quintero-Rivera, Fabiola
- Richer, Julie
- Scheuerle, Angela E.
- Schönewolf-Greulich, Bitten
- Shears, Deborah J.
- Silver, Josh
- Smith, Amanda C.
- Temple, I. Karen
- van de Kamp, Jiddeke M.
- van Dijk, Fleur S.
- Vandersteen, Anthony M.
- White, Sue M.
- Zackai, Elaine H.
- Zou, Ruobing
- Consortium, Care4Rare Canada
- Bulman, Dennis E.
- Boycott, Kym M.
- Lines, Matthew A.
2016
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Canadian journal of cardiology, 2014, Vol.30 (1), p.109-117
2014
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Nutrition, metabolism, and cardiovascular diseases, 2014-11, Vol.24 (11), p.1234-1239
2014
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International journal of food sciences and nutrition, 2015-11, Vol.66 (8), p.943-949
2015
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